ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2467del (p.Arg823fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003326217 SCV004032301 likely pathogenic Familial cancer of breast 2023-08-17 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP
Myriad Genetics, Inc. RCV003326217 SCV004043092 pathogenic Familial cancer of breast 2023-06-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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